Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Talipes (HP:0001883)

Parent Node:
Talipes equinovarus (HP:0001762)

..Starting node
..Talipes cavus equinovarus (HP:0004696)

Term ID:

4696

Name:

Talipes cavus equinovarus

Synonym:

Definition:

Comments:

Reference:

HP:0004696

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral talipes equinovarus (HP:0001776)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004696	HP:0004696	Talipes cavus equinovarus	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040282 - Frequent	136
HP:0004696	HP:0004696	Talipes cavus equinovarus	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0004696	HP:0004696	Talipes cavus equinovarus	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0004696	HP:0004696	Talipes cavus equinovarus	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21

Genes (4) :COQ8A MYH7 NDRG1 TAF1

Diseases (4) :ORPHA:139485 ORPHA:59135 OMIM:601455 OMIM:300966

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.